Molecular Data
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Patient ID
Type Of Mutation
Genic Region
Nucleotide change
Nucleotide
Aminoacid change
Codon
Domain
Ref.
Mutation comments
Clinical Data ISTH mutations 99 PSSM E28 3789G>A 3789 S1263S 1263 Interdomain Corrales et al. 2012 Described as SNP in VWFdb nut not in SNPdb. Unknown phase
Clinical Data ISTH mutations 99 Missense E28 3797C>T 3797 P1266L 1266 Interdomain Corrales et al. 2012 Described as Type 1 and 2B. Unknown phase
Clinical Data ISTH mutations 99 Missense E21 2771G>A 2771 R924Q 924 D3 Corrales et al. 2012 Described as Type 1 and 2N. Unknown phase